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pyruvate decarboxylase deficiency
Summary
- Synonym
-
- deficiency of pyruvic dehydrogenase
- pyruvate dehydrogenase complex deficiency disease
- pyruvate dehydrogenase deficiency
- Definition
- A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
- Super Class
- carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:3649
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002465 | Poor speech |
| HP:0003593 | Infantile onset |
| HP:0006961 | Jerky head movements |
| HP:0007325 | Generalized dystonia |
| HP:0012043 | Pendular nystagmus |
| HP:0000343 | Long philtrum |
| HP:0000431 | Wide nasal bridge |
| HP:0000454 | Flared nostrils |
| HP:0000463 | Anteverted nares |
| HP:0001249 | Intellectual disability |
